Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816792T>G , CM000681.2:g.4816792T>G | GRCh38 |
| NC_000019.9:g.4816804T>G , CM000681.1:g.4816804T>G | GRCh37 |
| NC_000019.8:g.4767804T>G | NCBI36 |
| NG_031998.1:g.19951A>C , LRG_358:g.19951A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1586A>C MANE Select | ENSP00000248244.4:p.Lys529Thr | |
| ENST00000248244.5:c.1586A>C | ENSP00000248244.4:p.Lys529Thr | |
| ENST00000621756.1:c.1169A>C | ENSP00000479467.1:p.Lys390Thr | |
| NM_182919.3:c.1586A>C , LRG_358t1:c.1586A>C | NP_891549.1:p.Lys529Thr | |
| NM_001385678.1:c.1544A>C | NP_001372607.1:p.Lys515Thr | |
| NM_001385679.1:c.1451A>C | NP_001372608.1:p.Lys484Thr | |
| NM_001385680.1:c.944A>C | NP_001372609.1:p.Lys315Thr | |
| NM_182919.4:c.1586A>C MANE Select | NP_891549.1:p.Lys529Thr |